Saethre-Chotzen Syndrome

OverviewSaethre-Chotzen syndrome is a genetic disorder in which certain skull bones fuse early and prevent the skull from growing normally. This affects the shape of the head and face. In addition patients may have droopy eyelids, low hairline, small ears, and webbing between the fingers.

CauseSaethre-Chotzen syndrome occurs in one out of 25,000 to 50,000 babies. It is a clinical diagnosis, and a gene mutation can be found by testing for particular genetic mutation (TWIST gene). If one parent has Saethre-Chotzen syndrome, there is a 50 percent chance that his child will be born with the disorder. It is possible for individuals who have Saethre-Chotzen syndrome to elect to not pass on this trait. Using in-vitro fertilization and selecting embryos for implantation that do not have the Saethre-Chotzen mutation. Unaffected parents who have one child with Saethre-Chotzen syndrome rarely give birth to a second child with the condition.

TreatmentThe care of a child born with Saethre-Chotzen syndrome is very complex, and is best provided by a comprehensive craniofacial team at one of the major craniofacial centers. Depending on the severity of the disorder, your child may require some or all of the following surgeries: